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Exons 14 and 15, encoding most of the C2C domain of the protein, have been deleted. RT-PCR analysis of cochleae of homozygous mutant mice confirmed the presence of an mRNA lacking the sequence encoded by the deleted exons. Translation of this mRNA would be frame-shifted, leading to a premature termination codon; absence of the expected truncated protein in homozygous mutant cochleae was demonstrated by immunohistolabeling and immunoblot analysis. (J:116097)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
